Variant report

Variant	rs12084695
Chromosome Location	chr1:70042477-70042478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489550	0.92[CEU][hapmap];0.88[GIH][hapmap];0.91[TSI][hapmap]
rs10889840	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889842	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11209495	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11209496	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11209505	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12038666	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12122895	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12136900	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap]
rs1245055	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs1245059	0.85[ASN][1000 genomes]
rs1245060	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[ASN][1000 genomes]
rs1245062	0.86[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1245066	0.90[ASN][1000 genomes]
rs12564056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12750288	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131004	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap]
rs1773349	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs2025598	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2066296	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2764536	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs2901340	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6699502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699223	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs800923	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs810347	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs810348	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12084695	LRRC40	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70035600-70053200	Weak transcription	Pancreas	Pancrea
2	chr1:70038400-70045200	Weak transcription	Brain Anterior Caudate	brain
3	chr1:70039800-70051400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:70041000-70046800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:70042400-70045600	Weak transcription	Fetal Brain Female	brain
6	chr1:70042400-70049400	Weak transcription	Fetal Brain Male	brain

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